A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies.
A mother and two daughters are presented with severe short stature with disproportionately short limbs, small hands, clinodactyly, valvular heart disease and a distinctive facies with ptosis, high-arched palate and crowded dentition. This appears to be a previously undescribed syndrome, probably inherited as an autosomal dominant trait.
Collins
F A
FA
Medical Genetics Unit, Children's Hospital, Sydney, Australia.
Partington
M W
MW
Mulcahy
D
D
Turner
G
G
D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000235:genetics*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006226:Hand Deformities / Q000150:complications / Q000235:genetics*; D006349:Heart Valve Diseases / Q000150:complications / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications / Q000235:genetics; D010375:Pedigree; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000235:genetics; D013577:Syndrome